ClinVar for Gene (Select 9793) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684645	GRCh37/hg19 11p11.2(chr11:46636234-47048768)x3	ARHGAP1, ATG13 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684644	GRCh37/hg19 11p11.2(chr11:46556948-46825148)x3	AMBRA1, ARHGAP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2641754	NM_001008938.4(CKAP5):c.2952T>C (p.Ser984=)	CKAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641753	NM_001008938.4(CKAP5):c.3231A>G (p.Lys1077=)	CKAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641752	NM_001008938.4(CKAP5):c.5155C>T (p.Leu1719=)	CKAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641751	NM_001008938.4(CKAP5):c.5340G>A (p.Thr1780=)	CKAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641750	NM_001008938.4(CKAP5):c.5358C>T (p.Asn1786=)	CKAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620318	NM_001008938.4(CKAP5):c.5653C>T (p.Arg1885Trp)	CKAP5 (R1885W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611074	NM_001008938.4(CKAP5):c.1457A>G (p.Lys486Arg)	CKAP5 (K486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606807	NM_001008938.4(CKAP5):c.2723G>A (p.Arg908Gln)	CKAP5 (R908Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605123	NM_001008938.4(CKAP5):c.4297A>G (p.Lys1433Glu)	CKAP5 (K1433E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603850	NM_001008938.4(CKAP5):c.1291A>G (p.Thr431Ala)	CKAP5 (T431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601902	NM_001008938.4(CKAP5):c.5873C>G (p.Pro1958Arg)	CKAP5 (P1898R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600442	NM_001008938.4(CKAP5):c.370G>T (p.Ala124Ser)	CKAP5 (A124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600424	NM_001008938.4(CKAP5):c.4729A>G (p.Met1577Val)	CKAP5 (M1577V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596216	NM_001008938.4(CKAP5):c.1354G>A (p.Ala452Thr)	CKAP5 (A452T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594838	NM_001008938.4(CKAP5):c.5734G>A (p.Val1912Met)	CKAP5 (V1912M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590196	NM_001008938.4(CKAP5):c.2651T>C (p.Val884Ala)	CKAP5 (V884A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589050	NM_001008938.4(CKAP5):c.328A>G (p.Ile110Val)	CKAP5 (I110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534033	NM_001008938.4(CKAP5):c.5238G>C (p.Glu1746Asp)	CKAP5 (E1686D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528370	NM_001008938.4(CKAP5):c.6023T>G (p.Val2008Gly)	CKAP5 (V1948G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527442	NM_001008938.4(CKAP5):c.5671A>G (p.Arg1891Gly)	CKAP5 (R1831G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517525	NM_001008938.4(CKAP5):c.2318C>T (p.Thr773Ile)	CKAP5 (T773I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516350	NM_001008938.4(CKAP5):c.1247C>T (p.Thr416Ile)	CKAP5 (T416I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507594	NM_001008938.4(CKAP5):c.370G>A (p.Ala124Thr)	CKAP5 (A124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496229	NM_001008938.4(CKAP5):c.3848C>G (p.Thr1283Ser)	CKAP5 (T1283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485117	NM_001008938.4(CKAP5):c.4833C>G (p.Ile1611Met)	CKAP5 (I1611M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459382	NM_001008938.4(CKAP5):c.4574G>A (p.Arg1525Gln)	CKAP5 (R1525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2412422	NM_001008938.4(CKAP5):c.2204C>G (p.Thr735Ser)	CKAP5 (T735S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403021	NM_001008938.4(CKAP5):c.2687C>T (p.Pro896Leu)	CKAP5 (P896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400777	NM_001008938.4(CKAP5):c.4594G>A (p.Asp1532Asn)	CKAP5 (D1532N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387245	NM_001008938.4(CKAP5):c.5092G>A (p.Ala1698Thr)	CKAP5 (A1698T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381215	NM_001008938.4(CKAP5):c.2821A>C (p.Asn941His)	CKAP5 (N941H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366344	NM_001008938.4(CKAP5):c.3023C>T (p.Thr1008Ile)	CKAP5 (T1008I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366312	NM_001008938.4(CKAP5):c.1034C>A (p.Thr345Asn)	CKAP5 (T345N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356132	NM_001008938.4(CKAP5):c.2227A>G (p.Ile743Val)	CKAP5 (I743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355912	NM_001008938.4(CKAP5):c.4493T>C (p.Val1498Ala)	CKAP5 (V1498A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350228	NM_001008938.4(CKAP5):c.2905G>A (p.Ala969Thr)	CKAP5 (A969T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348940	NM_001008938.4(CKAP5):c.275G>T (p.Gly92Val)	CKAP5 (G92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335638	NM_001008938.4(CKAP5):c.5359G>A (p.Glu1787Lys)	CKAP5 (E1727K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328436	NM_001008938.4(CKAP5):c.764G>A (p.Gly255Asp)	CKAP5 (G255D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326428	NM_001008938.4(CKAP5):c.2537A>G (p.Asn846Ser)	CKAP5 (N846S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315252	NM_001008938.4(CKAP5):c.4286C>T (p.Ala1429Val)	CKAP5 (A1429V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313383	NM_001008938.4(CKAP5):c.425T>A (p.Val142Glu)	CKAP5 (V142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311222	NM_001008938.4(CKAP5):c.5536A>C (p.Thr1846Pro)	CKAP5 (T1786P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310642	NM_001008938.4(CKAP5):c.503T>C (p.Val168Ala)	CKAP5 (V168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288673	NM_001008938.4(CKAP5):c.4403G>T (p.Arg1468Leu)	CKAP5 (R1468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279292	NM_001008938.4(CKAP5):c.2341G>A (p.Val781Met)	CKAP5 (V781M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272724	NM_001008938.4(CKAP5):c.4168A>G (p.Ile1390Val)	CKAP5 (I1390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242050	NM_001008938.4(CKAP5):c.1112A>G (p.Lys371Arg)	CKAP5 (K371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239440	NM_001008938.4(CKAP5):c.3459T>G (p.Asp1153Glu)	CKAP5 (D1153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238326	NM_001008938.4(CKAP5):c.2683C>A (p.Gln895Lys)	CKAP5 (Q895K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238078	NM_001008938.4(CKAP5):c.1718A>G (p.Asn573Ser)	CKAP5 (N573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221125	NM_001008938.4(CKAP5):c.1162A>G (p.Ile388Val)	CKAP5 (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218578	NM_001008938.4(CKAP5):c.4294A>G (p.Ile1432Val)	CKAP5 (I1432V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217378	NM_001008938.4(CKAP5):c.3653A>T (p.Gln1218Leu)	CKAP5 (Q1218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	F2, FAM180B +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 832135	NC_000011.10:g.(?_46366257)_(46744577_?)dup	MDK, ZNF408 +8 more	Duplication	not provided	GUncertain significance
Select item 685706	GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3	AMBRA1, ARHGAP1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 560299	NM_001008938.4(CKAP5):c.1625C>T (p.Pro542Leu)	CKAP5 (P542L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 161683	NM_001008938.4(CKAP5):c.721A>G (p.Lys241Glu)	CKAP5 (K241E)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +258 more	Copy number loss	See cases	GPathogenic
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 75